A Patient With Atypical Multiple Sulfatase Deficiency

作者：Miskin Chandrabhaga; Melvin Joseph J; Legido Agustin; Wenger David A; Harasink Sue Moyer; Khurana Divya S^*

来源：Pediatric Neurology, 2016, 57: 98-100.

DOI：10.1016/j.pediatrneurol.2015.10.023

• multiple sulfatase deficiency
• leukodystrophy
• neurological regression

BACKGROUND: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder. PATIENT DESCRIPTION: We present a 4-year-old girl with clinical findings of microcephaly, spondylolisthesis and neurological regression without ichthyosis, coarse facies, and organomegaly. RESULTS: The child's magnetic resonance imaging demonstrated confluent white matter abnormalities involving the periventricular and deep cerebral white matter with the U-fibers relatively spared. Biochemical testing showing low arylsulfatase A levels were initially thought to be consistent with a diagnosis of metachromatic leukodystrophy. The diagnosis of multiple sulfatase deficiency was pursued when genetic testing for metachromatic leukodystrophy was negative. CONCLUSION: This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features.

• 出版日期2016-4